目的 通过分析不明原因的肝功能异常患者的临床特征、病因、诊断、肝活检组织病理学特点,以提高疑难肝病的诊断水平.方法 2015年1月~2017年3月以肝功能异常入院的患者2195例,排除明确诊断者后,94例诊断不明者被纳入研究.采用电化学发光法测定抗巨细胞病毒IgM和IgG,采用多重薇珠流式免疫荧光发光法、间接免疫荧光法、ELISA法、免疫印迹法等测定抗核抗体(ANA)、抗平滑肌抗体(ASMA)、抗线粒体抗体M2亚型(AMA-M2)、抗肝肾微粒体抗体-1(LKM-1)、抗肝细胞胞质-I型抗体(LC-1)、抗可溶性肝抗原 /肝胰抗原抗体(SLA/LP)、抗中性粒细胞胞浆抗体,采用原子吸收光谱法测定血清铜、血清铁、24 h尿铜,采用化学发光法和免疫比浊法测定铁蛋白、转铁蛋白、转铁饱和度,常规行腹部影像学和肝活检检查.结果 在94例肝功能异常患者中,非酒精性脂肪性肝病(NAFLD)40例(42.6%)、自身免疫性肝病(AIH、PBC)22例(23.4%)、药物性肝损害(DILI)20例(21.3%),其它依次为隐匿性慢性乙型肝炎3例(3.2%),良性复发性胆汁淤积、Wilson病、血色病、淋巴瘤、巨细胞病毒感染、Oddi括约肌功能障碍(SOD)、Kwashiorkor综合征、肌营养不良各1例(8.5%),原因不明1例(1.1%).结论在所谓的不明原因的肝功能异常患者中,以NAFLD、ALD和DILI最常见,而遗传代谢性肝病和其他少见病也占一定的比例,应引起临床医师的重视,开阔诊断思路.%Objective To investigate the etiology of patients with unexplained abnormal liver function tests. Methods Ninety-four out of 2195 patients with abnormal liver function tests were recruited in this study. The blood biochemical parameters,serology,virology,abdominal imaging and liver biopsy were performed routinely. Results The diagnosis included non-alcoholic fatty liver disease(NAFLD)in 40 case(42.6%),autoimmune liver disease(AIH and PBC)in 22(23.4%),drug-induced liver injury(DILI)in 20(21.3%),and other diseases were occult chronic hepatitis B in 3(3.2%),and benign recurrent cholestasis,Wilson's disease,hemochromatosis, lymphoma,cytomegalovirus infection,dysfunction of sphincter of Oddi(SOD),Kwashiorkor syndrome and muscular dystrophy in 1 of them,and 1 still with unknown etiology. Conclusion NAFLD,ALD and DILI are the most common causes of patients with unexplained abnormal liver function tests. Genetic metabolic and other rare diseases also account for a certain proportion,which the clinicians should take attention in clinical practice.
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